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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OCRL

Variant:p.V787insFs

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OCRL

NM_000276.4:p.V787insFs

hg38:chrX:129588904 T>TC

Associated Papers

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Song E et al.

Scientific Reports, 2017

28473699 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."